Genetics of metabolic syndrome

Stančáková, A. and M. Laakso (2014). "Genetics of metabolic syndrome." Reviews in Endocrine and Metabolic Disorders 15(4): 243-252.

摘要：代谢综合征（MetS）是一系列的代谢失调，包括心血管疾病和2型糖尿病风险增高。中心型肥胖和胰岛素抵抗认为是MetS发病原因。MetS认为是遗传原因导致的，因此linkage analysis, candidate gene approach, and genome-wide association (GWA) studies用来研究其机制。已发现极少的SNP与lipid metabolism相关。遗传研究表明极少的证据指向common genetic background。环境的影响如甲基化在MetS中发挥重要的作用

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• Pathogenesis of metabolic syndrome
  insulin resistance and central obesity 只能解释一部分机制
• Genetic studies of metabolic syndrome
  候选基因关联分析发现MetS与energy intake, energy expenditure and body weight (e.g. leptin, leptin receptor, melanocortin receptors, UCP2, neuropeptide Y), lipid and carbohydrate metabolism (e.g. β2- and β3- adrenergic receptors, hormone-sensitive lipase, lipoprotein lipase, hepatic lipase, apolipoprotein E, apolipoprotein A5, fatty acid-binding protein 2, apolipoprotein C-III, glycogene synthase, PPARG), inflammation (TNF-α, IL1-β), insulin signaling (IRS-1, IGF1R), or blood pressure (ACE)相关. 虽然这种方法发现一些位点与MetS相关, 但是不能重复，可能是因为 lack of statistical power.

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FTO and MC4R are the strongest candidates thought to have primary effects on body weight regulation, and IRS1 has important effect on insulin resistance

• Epigenetics and microRNAs in the pathogenesis of metabolic syndrome
  表观遗传如DNA甲基化和组蛋白修饰在MetS发生过程中起着重要的作用。